Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67746421..67749968-chr2:68288445..68290410,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197223	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10207998	0.86[EUR][1000 genomes]
rs11890974	0.98[ASN][1000 genomes]
rs11894777	0.98[ASN][1000 genomes]
rs12998432	0.87[EUR][1000 genomes]
rs12998660	0.87[EUR][1000 genomes]
rs13016594	0.85[EUR][1000 genomes]
rs13022809	0.87[EUR][1000 genomes]
rs1402441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1521050	0.88[EUR][1000 genomes]
rs1521052	0.89[EUR][1000 genomes]
rs1568469	0.91[EUR][1000 genomes]
rs2541015	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2541028	0.94[EUR][1000 genomes]
rs2541030	0.92[EUR][1000 genomes]
rs2541031	0.91[EUR][1000 genomes]
rs2541034	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2683675	1.00[ASN][1000 genomes]
rs2683676	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2683677	1.00[ASN][1000 genomes]
rs2683680	1.00[CHB][hapmap]
rs2683681	1.00[CHB][hapmap]
rs2683682	0.87[EUR][1000 genomes]
rs2683684	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2860517	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs35250398	0.87[EUR][1000 genomes]
rs72899913	0.96[ASN][1000 genomes]
rs72899928	0.98[ASN][1000 genomes]
rs72899935	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2683683	VAX2	cis	parietal	SCAN
rs2683683	ANTXR1	cis	parietal	SCAN
rs2683683	CEP68	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67742000-67747000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:67745000-67749800	Weak transcription	Fetal Kidney	kidney
3	chr2:67745200-67749000	Weak transcription	Fetal Stomach	stomach
4	chr2:67745200-67750200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:67745400-67749600	Weak transcription	Fetal Lung	lung

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